chromosome 1p36 deletion syndrome

A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

Also known as: 1p telomere deletion syndrome, 1p36 deletion syndrome, 1p36 microdeletion syndrome, Del(1)(p36), chromosome 1p36 deletion syndrome, distal, isolated cases, deletion 1p36

Category: General

What is chromosome 1p36 deletion syndrome?

chromosome 1p36 deletion syndrome is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have chromosome 1p36 deletion syndrome, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with chromosome 1p36 deletion syndrome

Conductive hearing impairmentConstipationDeeply set eyeDysphagiaEpileptic spasmGastroesophageal refluxHearing impairmentSeizureSensorineural hearing impairment

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.